Aliases &
Descriptions
for NGEF gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| neuronal guanine nucleotide exchange factor1 2 3 | | ARHGEF271 2 | | Eph-interacting exchange protein2 3 | | ephexin-12 | | EPHEXIN2 |
Export aliases for NGEF gene to outside databasesPrevious GC identifers: GC02M231800 GC02M232472 GC02M233707 GC02M233945 GC02M233568 GC02M233451 |
Summaries
for NGEF gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 andCDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse. Upon activation by ephrin throughEPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction atthe expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)
|
Genomic Views
for NGEF gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NGEF gene promoter:
FOXF2 FOXL1 FOXO3b FOXO3a FOXO4 SRF E47 Chx10 FOXD1 POU2F1
Other transcription factors
Search SABiosciences Chromatin IP Primers for NGEF
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NGEF  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37NGEF Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M225592: view genomic region
(about GC identifiers)
Start:
|
225,592,253 bp from pter |
End:
|
225,726,431 bp from pter |
Size:
|
134,179 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr2- 233,743,396-233,877,982 |
RefSeq DNA sequence:- NC_000002.11 NT_005403.17
|
Proteins
for NGEF gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2 (See
protein sequence)Recommended Name: Ephexin-1 Size: 710 amino acids; 82496 Da
Subunit: Interacts with EPHA4 (By similarity)
Subcellular location: Cytoplasm (By similarity). Membrane (By similarity). Cell projection, growth cone (Bysimilarity). Note=Associated with membranes. Localizes to axonal growth cones (By similarity)
Sequence caution: Sequence=AAH73962.1; Type=Erroneous initiation; Sequence=AAX93288.1; Type=Erroneous initiation;Sequence=CAC00686.1; Type=Frameshift; Positions=156;
Secondary accessions: B9A045 Q53QQ4 Q53ST7 Q6GMQ5 Q9NQD6Alternative splicing: 2 isoforms: Q8N5V2-1 Q8N5V2-2 Explore the universe of human proteins at neXtProt for NGEF: NX_Q8N5V2
Post-translational modifications:
Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity towardRHOA (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001107562.1 NP_062824.2
ENSEMBL proteins: ENSP00000264051 ENSP00000362653 ENSP00000387591 ENSP00000401063 ENSP00000412614 ENSP00000407544 ENSP00000387033 ENSP00000405053
Human Recombinant Proteins
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
NGEF for ontologies About GeneDecksing
Antibodies for NGEF:
Assays for NGEF: |
Protein
Domains/
Families
for NGEF gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NGEF for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N5V2ProtoNet protein and cluster: Q8N5V2 3 Blocks protein families: IPB000219 DH domain IPB001452 SH3 domain signature IPB001849 Pleckstrin-like
UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2Domain: The DH domain and the PH domain are both required to mediate interaction with EPHA4 (By similarity)Similarity: Contains 1 DH (DBL-homology) domainSimilarity: Contains 1 PH domainSimilarity: Contains 1 SH3 domain |
Gene Function
for NGEF gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 andCDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse. Upon activation by ephrin throughEPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction atthe expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)
2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity |
EXP | 11756498 | | GO:0005089 | Rho guanyl-nucleotide exchange factor activity |
TAS | -- |
About this table
NGEF for ontologies About GeneDecksing
Animal Models: 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Ngef):
NGEF for phenotypes About GeneDecksing
|
Pathways & Interactions
for NGEF gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
NGEF for pathways About GeneDecksing
3  Millipore Pathways for NGEF
3  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for NGEF
1  Kegg Pathway (Kegg details for NGEF):
SABiosciences Custom Pathway-Focused PCR Arrays for NGEF
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for NGEF
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NGEF
5/100 Interacting proteins for NGEF (Q8N5V22 ENSP000002640513) via UniProtKB, MINT, and/or STRING (see all 100)About this table
5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10): About this table
NGEF for ontologies About GeneDecksing
|
Drugs & Compounds
for NGEF gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for NGEF
|
Transcripts
for NGEF gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for NGEF gene (2 alternative transcripts): NM_001114090.1 NM_019850.2 Additional cDNA sequence: AJ238899.1 AK025225.1 AK293203.1 AK297390.1 AK298315.1 AK300953.1 BC031573.1 BC073962.1 9 DOTS entries: DT.100025352 DT.100740682 DT.120969018 DT.405172 DT.75181054 DT.120968982 DT.120969098 DT.111601 DT.40188493 1 AceView cDNA sequence: AK025225
 highest scoring ESTs for NGEF:BC031573 BI759884 BM829379 AA349441 AA858072 AI752414 AI752484 AI752485 AI984780 AI991958 Unigene Cluster for NGEF: Neuronal guanine nucleotide exchange factor Hs.97316 [show with all ESTs]Unigene Representative Sequence: NM_019850
GeneLoc Exon Structure
10 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000264051(uc010zmm.1 uc002vts.2) ENST00000373552(uc010fyg.1)
ENST00000424488 ENST00000489127 ENST00000461944 ENST00000416114 ENST00000458735
ENST00000420650 ENST00000409079(uc002vtt.2) ENST00000414326
|
Expression
for NGEF gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| NGEF expression in normal and diseased human tissues
1 / 2 / 3 8 probe-sets matching NGEF gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 62570_at2, 3
|
U95-C |
1 |
1.00 |
1.00 |
0.95 |
0.99 |
AI752485 |
0.60 |
1.00 |
0.82 |
1 |
| 52384_s_at2, 3
|
U95-B |
1 |
0.81 |
1.00 |
0.99 |
1.04 |
AI984780 |
0.60 |
1.00 |
0.82 |
1 |
| 45561_at2, 3
|
U95-B |
1 |
0.81 |
1.00 |
0.98 |
0.97 |
AI991958 |
0.60 |
1.00 |
0.82 |
1 |
| 76705_at2, 3
|
U95-D |
1 |
0.81 |
1.00 |
0.49 |
1.05 |
AA858072 |
0.60 |
1.00 |
0.82 |
1 |
| 243556_at2, 3
|
U133-B |
1 |
1.00 |
1.00 |
-- |
-- |
R89026 |
0.60 |
1.00 |
0.82 |
1 |
| 227240_at2, 3
|
U133-B |
1 |
0.91 |
1.00 |
-- |
-- |
AV703769 |
0.40 |
1.00 |
0.76 |
1 |
| 243556_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 227240_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
NGEF for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GCAGGCCTGC
SOURCE GeneReport for Unigene cluster: Hs.97316
UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2Tissue specificity: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala andhippocampus. Also detected in lung
SABiosciences Custom PCR Arrays for NGEF
|
Orthologs
for NGEF gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NGEF gene from 5/10 species (see all 10)
About this table Species with no ortholog for NGEF
ENSEMBL Gene Tree for NGEF (if available) |
Paralogs
for NGEF gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for NGEF gene
- ARHGEF192 ARHGEF152 ARHGEF162 ARHGEF52 ARHGEF262
NGEF for paralogs About GeneDecksing
|
Genomic Variants
for NGEF gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 2 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for NGEF (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for NGEF
5 CNVs: 43275 98170 90336 68243 79016
6 Indels: 26590 90337 61891 79015 26591 63070 | | QIAGEN SeqTarget long-range PCR primers for resequencing NGEF |
|
Disorders & Mutations
for NGEF gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NGEF for disorders About GeneDecksing
OMIM: 605991
Human Genome Epidemiology (HuGE) Navigator: NGEF (3 documents)
Export disorders and mutations for NGEF gene to outside databases
|
Medical News
for NGEF gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for NGEF gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/18 PubMed articles for NGEF gene, integrated from 7 sources (see all 18):
(articles sorted by number of sources associating them with NGEF)- Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. (PubMed id 10777665)1, 2, 3 Rodrigues N.R.... Davies K.E. (2000)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. (PubMed id 11336673)1, 7 Shamah S.M....Greenberg M.E. (2001)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1 Takefuji M....Kaibuchi K. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Regulation of ephexin1, a guanine nucleotide exchange factor of Rho family GTPases, by fibroblast growth factor receptor-mediated tyrosine phosphorylation. (PubMed id 17702745)1 Zhang Y....Sakaguchi K. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
|
External Searches for NGEF gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NGEF gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NGEF gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NGEF gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for NGEF gene:
Search GeneIP for patents involving NGEF
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NGEF gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
 |
 |
| | |
 |  |  |  | |
| |  | Search Tocris compounds for NGEF |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for NGEF |
| |
|
|
